Topic Contents

Barth Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Barth Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy), low levels of certain white blood cells (neutrophils, neutropenia) that help to fight bacterial infections, and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, such as 3-methylglutaconic aciduria/acidemia.

The left ventricle of the heart may show increased thickness as a result of unusually high concentrations of elastic, collagenous fibers (endocardial fibroelastosis). The thickening reduces the ability of the left ventricle to push blood though to the lungs and thus is the prime source of potential heart failure.

Barth syndrome is transmitted as an X-linked recessive trait. A gene responsible for the disorder has been located on the long arm (q) of chromosome X at Xq28.

Supporting Organizations

American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721

Email: Review.personal.info@heart.org

Website: http://www.heart.org

American Organ Transplant Association

P. O. Box 418

Stilwell, KS 66085

Tel: 832-930-AOTA (2682)

Email: aotaonline@gmail.com

Website: http://www.aotaonline.org

Barth Syndrome Foundation

P.O. Box 618

Larchmont, NY 10538

Tel: (850)223-1128

Fax: (518)213-4061

Email: bsfinfo@barthsyndrome.org

Website: http://www.barthsyndrome.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

Cardiomyopathy Association

Chiltern Court, Unit 10

Asheridge Rd Ind

Chesham, HP5 2PX

United Kingdom

Tel: 4401494791224

Fax: 4401494797199

Tel: 8000181024

Email: info@cardiomyopathy.org

Website: http://www.cardiomyopathy.org

Children's Cardiomyopathy Foundation

PO Box 547

Tenafly, NJ 7670

USA

Tel: (866)808-2873

Fax: (201)227-7016

Email: info@childrenscardiomyopathy.org

Website: http://www.childrenscardiomyopathy.org

Children's Mitochondrial Disease Network

Mayfield House

30 Heber Walk

England, CW9 5JB

United Kingdom

Tel: 440160643946

Fax: 440160643946

Email: info@cmdn.org.uk

Website: http://www.emdn-mitonet.co.uk/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Lactic Acidosis Support Trust

1A Whitley Close

Cheshire, CW10 0NQ

United Kingdom

Tel: 160683719

Fax: 1606837198

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

MitoAction

PO Box 51474

Boston, MA 02205

Tel: (888)648-6228

Fax: (888)648-6228

Email: info@mitoaction.org

Website: http://www.MitoAction.org

Montgomery Heart Foundation for Cardiomyopathy

1830 E. Monument St./Suite 7300

Baltimore, MD 21205

Tel: (402)502-2578

Fax: (443)287-4109

Email: njohnso5@jhmi.edu

Website: http://www.hopkinsmedicine.org/cardiomyopathy/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Website: http://www.nhlbi.nih.gov/

National Neutropenia Network

P.O. Box 1693

Brighton, MI 48116

USA

Tel: (517)294-0736

Email: leereeves99@gmail.com

Website: http://www.neutropenianet.org

National Transplant Assistance Fund

150 N. Radnor Chester Road

Suite F-120

Radnor, PA 19087

USA

Tel: (610)353-9684

Fax: (610)535-6106

Tel: (800)642-8399

Email: NTAF@transplantfund.org

Website: http://www.transplantfund.org

Neutropenia Support Association, Inc.

971 Corydon Avenue

P.O. Box 243

Manitoba, R3M 3S7

Canada

Tel: 2044898454

Tel: 8006638876

Email: stevensl@neutropenia.ca

Website: http://www.neutropenia.ca

TransWeb

University of Michigan Transplant Center

3868 Taubman Center

Ann Arbor, MI 48109-5451

USA

Tel: (734)232-1113

Fax: (734)232-1111

Email: transweb@umich.edu

Website: http://www.transweb.org/index.shtml

Transplant Recipients International Organization, Inc.

2100 M Street NW 170-353

Washington, DC 20037-1233

USA

Tel: (202)293-0980

Tel: (800)874-6386

Email: info@trioweb.org

United Mitochondrial Disease Foundation

8085 Saltsburg Road Suite 201

Pittsburgh, PA 15239

United States

Tel: (412)793-8077

Fax: (412)793-6477

Tel: (888)317-8633

Email: info@umdf.org

Website: http://www.umdf.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/17/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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